本期做到最后核对的时候发现引用文献有点小问题,所以修改导致拖更,才不是因为我在玩SPRB! 以下为本期引用文献: 中链酰基-COA脱氢酶缺乏症的发病机制、诊断和治疗 Mason E, Hindmarch CCT, Dunham-Snary KJ. Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment. Endocrinol Diabetes Metab. 2023 Jan;6(1):e385. doi: 10.1002/edm2.385. Epub 2022 Oct 27. PMID: 36300606; PMCID: PMC9836253. 首次提取ACADM基因 Tanaka K, Yokota I, Coates PM, Strauss AW, Kelly DP, Zhang Z, Gregersen N, Andresen BS, Matsubara Y, Curtis D, et al. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat. 1992;1(4):271-9. doi: 10.1002/humu.1380010402. PMID: 1363805. AAV基因递送可以用于脂肪酸氧化障碍患者 Longo N, Diaz GA, Lichter-Konecki U, Schulze A, Inbar-Feigenberg M, Conway RL, Bannick AA, McCandless SE, Zori R, Hainline B, Ah Mew N, Canavan C, Vescio T, Kok T, Porter MH, Berry SA. Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders. Mol Genet Metab. 2021 Jan;132(1):19-26. doi: 10.1016/j.ymgme.2020.12.002. Epub 2020 Dec 23. PMID: 33388234; PMCID: PMC8655853. AAV基因递送治疗MCADD的小鼠模型 Schowalter DB, Matern D, Vockley J. In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector. Mol Genet Metab. 2005 Jun;85(2):88-95. doi: 10.1016/j.ymgme.2005.02.006. Epub 2005 Mar 19. PMID: 15896652.






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